Genitopatellar Syndrome

Description

Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency.

Clinical Features

Top most frequent phenotypes and symptoms related to Genitopatellar Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment

And another 89 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Genitopatellar Syndrome Is also known as absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome, absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Genitopatellar Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Non-immune Hydrops Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9 , (...)

View the complete list with 66 more genes
Specificity
2 %
Genes
50 %
NGS RASopathy Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RIT1, RRAS, BRAF, SOS1, SOS2, CBL, SHOC2, KAT6B, SPRED1, A2ML1, CABIN1, NSUN2, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NF2, NRAS , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
50 %
KAT6B Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

KAT6B
Specificity
100 %
Genes
50 %
KAT6B Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

KAT6B
Specificity
100 %
Genes
50 %
Noonan Spectrum Disorders Panel, Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

RIT1, BRAF, SOS1, CBL, SHOC2, KAT6B, SPRED1, RAB40AL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1
Specificity
7 %
Genes
50 %
Noonan Spectrum Disorders Panel, Sequencing, Fetal.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

RIT1, BRAF, SOS1, CBL, SHOC2, KAT6B, SPRED1, RAB40AL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1
Specificity
7 %
Genes
50 %
KAT6B. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

KAT6B
Specificity
100 %
Genes
50 %
KAT6B. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

KAT6B
Specificity
100 %
Genes
50 %

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Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like VENTRICULAR SEPTAL DEFECT 2; VSD2 PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE; SPG44 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1; ARCI1 HEREDITARY ACROKERATOTIC POIKILODERMA, WEARY TYPE

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